ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.3358G>A (p.Glu1120Lys)

dbSNP: rs863225098
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Genetics and Molecular Cardiology, University of São Paulo RCV000201510 SCV000256133 likely pathogenic Hypertrophic cardiomyopathy 1 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003486766 SCV004239455 uncertain significance Cardiomyopathy 2023-04-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003586166 SCV004331550 uncertain significance Hypertrophic cardiomyopathy 2023-10-09 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 1120 of the MYH7 protein (p.Glu1120Lys). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with hypertrophic cardiomyopathy (PMID: 24793961, 27247418). ClinVar contains an entry for this variant (Variation ID: 217465). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt MYH7 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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